Canonical Allele Identifier: CA227600
Gene: TYR HGNC NCBI

Linked Data

ClinVar Variation Id: 3796
ClinVar RCV Id: RCV000004000 RCV000085979 RCV000755072 RCV003156055 RCV003460423 RCV003492282 RCV003488321
dbSNP Id: rs61754375
ExAC: 11:88924446 G / A
gnomAD v2: 11-88924446-G-A
gnomAD v3: 11-89191278-G-A
gnomAD v4: 11-89191278-G-A
COSMIC: COSM5168422
MyVariant Identifiers: chr11:g.88924446G>A (hg19) chr11:g.89191278G>A (hg38)
PubMed: PMID:1642278 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.89191278G>A , CM000673.2:g.89191278G>A GRCh38
NC_000011.9:g.88924446G>A , CM000673.1:g.88924446G>A GRCh37
NC_000011.8:g.88564094G>A NCBI36
NG_008748.1:g.18407G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263321.6:c.896G>A MANE Select ENSP00000263321.4:p.Arg299His
ENST00000263321.5:c.896G>A ENSP00000263321.4:p.Arg299His
ENST00000526139.1:n.957G>A
NM_000372.4:c.896G>A NP_000363.1:p.Arg299His
XM_011542970.1:c.896G>A XP_011541272.1:p.Arg299His
XM_011542970.2:c.896G>A XP_011541272.1:p.Arg299His
XR_001748321.1:n.2718-77745C>T
XR_001748322.1:n.2733-77745C>T
NM_000372.5:c.896G>A MANE Select NP_000363.1:p.Arg299His
Search 100 bp 5'
Search 100 bp 3'